CDKL5 Proband Entry



Entry ID: cp388

Systematic name: c.145+4AT[13]

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not known - non-Rett syndrome control

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, MECP2 negative, CDKL5 Ex1-22

Source of DNA: not stated

Familial testing: No

Familial X-inactivation:

Control screening: found in 2/200 (1%) of chromosomes

dbSNP ID:

Source: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35

Comments:

Entry last updated on: 2014-05-15 05:58:00

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.145+4AT[13] p.= Not known - normal control Male 16015284 Evans et al (2005) cp36
c.145+4AT[13] p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp385
c.145+4AT[13] p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp386
c.145+4AT[13] p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp387
c.145+4AT[13] p.= Not known - non-Rett syndrome control Female Roche Martinez et al (2012) cp389

Displaying a total number of 5 proband entries.